Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
4 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.800 0
dbSNP: rs121918351
rs121918351
JAG1
3 0.882 0.240 20 10658611 missense variant C/T snv 0.700 0
dbSNP: rs1445910672
rs1445910672
TBX1
1 1.000 0.080 22 19761255 stop gained G/A;T snv 0.700 0
dbSNP: rs1554034812
rs1554034812
NIPBL
3 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0
dbSNP: rs1556165162
rs1556165162
HDAC8
7 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
dbSNP: rs1569484042
rs1569484042
COX1 ; COX2 ; ND2
1 1.000 0.080 MT 5954 frameshift variant A/- del 0.700 0
dbSNP: rs1569484120
rs1569484120
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6887 inframe insertion -/GGG delins 0.700 0
dbSNP: rs1569484122
rs1569484122
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6900 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
2 0.925 0.080 MT 6925 frameshift variant C/- delins 0.700 0
dbSNP: rs1569484126
rs1569484126
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6939 frameshift variant T/- delins 0.700 0
dbSNP: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7638 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484288
rs1569484288
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9273 protein altering variant -/ATC ins 0.700 0
dbSNP: rs1569484299
rs1569484299
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9429 protein altering variant -/CCC ins 0.700 0
dbSNP: rs1569484301
rs1569484301
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9441 inframe insertion -/TTT delins 0.700 0
dbSNP: rs201442000
rs201442000
NKX2-5
2 0.925 0.080 5 173235019 missense variant T/C;G snv 1.3E-04; 4.1E-06 0.700 0
dbSNP: rs28374544
rs28374544
ZFPM2 ; ZFPM2-AS1
1 1.000 0.080 8 105802051 missense variant A/G snv 1.1E-02 4.4E-02 0.700 0
dbSNP: rs587783446
rs587783446
CHD7
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs864321699
rs864321699
GATA4
2 1.000 0.080 8 11708337 missense variant G/A;C snv 0.700 0
dbSNP: rs115099192
rs115099192
GATA4
5 0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 0.810 1.000 1 2010 2010
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.810 1.000 1 2008 2008
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs121434424
rs121434424
GDF1 ; CERS1
1 1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04 0.800 1.000 1 2007 2007
dbSNP: rs2388896
rs2388896
LINC02676
1 1.000 0.080 10 8912261 intron variant A/G snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs6499100
rs6499100 		1 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 0.800 1.000 1 2013 2013